Varaico: Literature-Extracted Genetic Variants

WFS1

944 papers

RefSeq Summary

This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell li...

Pfam Domains

WSLRaa 99–133UCSCWolframin Sel1-like repeat

WSLRaa 137–175UCSCWolframin Sel1-like repeat

WEF-handaa 176–255UCSCWolframin EF-hand domain

WC-richaa 666–769UCSCWolframin cysteine-rich domain

WCOBaa 770–890UCSCWolframin C-terminal OB-fold domain

Gene Aliases

HGNC Name

wolframin ER transmembrane glycoprotein

HGNC Previous Symbols

DFNA6; DFNA14; DFNA38

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_006005.3

p.A684T

c.2050G>A

Surrounding Variants

7 papers

NM_006005.3

p.A684G

c.2051C>G

79 papers

NM_006005.3

p.A684V

c.2051C>T

1 paper

NM_006005.3

p.R685insFs

c.2054_2055dupGC

1 paper

NM_006005.3

p.A684A

c.2052G>A

7 papers

NM_006005.3

p.M683R

c.2048T>G

9 papers

NM_006005.3

p.R685C

c.2053C>T

7 papers

NM_006005.3

p.R685H

c.2054G>A

15 papers

NM_006005.3

p.R685P

c.2054G>C

7 papers

NM_006005.3

p.N682S

c.2045A>G

3 papers

NM_006005.3

p.N682D

c.2044A>G

1 paper

NM_006005.3

p.T686fs

c.2056_2057fs

4 papers

NM_006005.3

p.E680A

c.2039A>C